Communicating Hydrocephalus in Children with Genetic Inborn Errors of Metabolism

Abstract

The authors have seen eight cases of communicating hydrocephalus in children with genetic metabolic disorders, namely, one mucopolysaccharidosis I (MPS I or Hurler syndrome), one MPS II (Hunter’s disease), four MPS III (Sanfilippo syndrome) two of which were siblings, and two achondroplasias. The authors recommend surgical treatment of the latter but are doubtful about the former in which case hydrocephalus is only a contributing cause to severe dementia. In MPS hydrocephalus is due to accumulation of storage material in the piaarachnoid, as indicated by RISA cisternography carried out in six cases.

Neurological findings in Hunter disease: Pathology and possible therapeutic effects reviewed

“…Fowler and colleagues found Fstrikingly thickened_ leptomeninges in postmortem investigations of a patient with MPS II who had suffered from hydrocephalus. Light microscopy showed Fmarked increase in collagen fibre number_ and numerous macrophages with PAS-positive storage material at the leptomeninges (Fowler et al 1975). Detection of GAG storage and PAS-positive macrophages at the arachnoidal plexus supported the hypothesis that impaired resorption of cerebrospinal fluid may subsequently lead to the development of hydrocephalus in MPS II (van Aerde et al 1981).…”

“…Detection of GAG storage and PAS-positive macrophages at the arachnoidal plexus supported the hypothesis that impaired resorption of cerebrospinal fluid may subsequently lead to the development of hydrocephalus in MPS II (van Aerde et al 1981). A possible complication of persisting hydrocephalus in Hunter disease is pseudotumor cerebri (Fowler et al 1975;van Aerde et al 1981;van Aerde and Campbell 1983;Yatziv and Epstein 1977). The treatment of choice is ventriculoperitoneal shunting, which was reported first by Yatziv and Epstein in a 2-year-old boy with MPS II who showed marked improvement of motor development after shunting .…”

Cervical decompression in mild mucopolysaccharidosis type II (Hunter syndrome)

“…Communicating hydrocephalus is a well-recognised associated feature of mucopolysaccharidoses in general and of MPS type II in particular [5,20,25]. The aetiology of this hydrocephalus is thought to be due to arachnoid villi infiltration and/or pachymeningeal infiltration by mucopolysaccharides with obliteration of the subarachnoid space [5,20].…”

“…Communicating hydrocephalus is a well-recognised associated feature of mucopolysaccharidoses in general and of MPS type II in particular [5,20,25]. The aetiology of this hydrocephalus is thought to be due to arachnoid villi infiltration and/or pachymeningeal infiltration by mucopolysaccharides with obliteration of the subarachnoid space [5,20]. Pseudopapilloedema (with normal cerebrospinal fluid pressure) is common, but true papilloedema reflecting increased intracranial pressure, and even frank hydrocephalus, may develop as the disease progresses [15,20,21].…”

Hunter syndrome presenting as macrocephaly and hydrocephalus.

“…Among the mucopolysaccharidoses, communicating hydrocephalus has been described in the Hurler (MPS I), Hunter (MPS II), and Sanfilippo (MPS III) syndromes (Fowler et al, 1975), sometimes accompanied by papilloedema (McKusick, 1972). In this report we describe a 2-year-old black boy with communicating hydrocephalus, macrosomia, and hepatosplenomegaly who represented a diagnostic dilemma until the presence of the Hunter syndrome was finally established.…”